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WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?

Sanja Vujisic   ORCID icon orcid.org/0000-0002-3054-0847 ; BetaPlus Center for Reproductive Medicine, Zagreb, Croatia
Nebojsa Vujnovic ; BetaPlus Center for Reproductive Medicine, Zagreb, Croatia
Martina Bracun ; BetaPlus Center for Reproductive Medicine, Zagreb, Croatia
Romana Dmitrovic   ORCID icon orcid.org/0000-0001-6366-2042 ; BetaPlus Center for Reproductive Medicine, Zagreb, Croatia

Puni tekst: engleski, pdf (746 KB) str. 57-62 preuzimanja: 109* citiraj
APA 6th Edition
Vujisic, S., Vujnovic, N., Bracun, M. i Dmitrovic, R. (2019). WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?. Molecular and Experimental Biology in Medicine, 2 (2), 57-62. Preuzeto s https://hrcak.srce.hr/226239
MLA 8th Edition
Vujisic, Sanja, et al. "WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?." Molecular and Experimental Biology in Medicine, vol. 2, br. 2, 2019, str. 57-62. https://hrcak.srce.hr/226239. Citirano 24.10.2020.
Chicago 17th Edition
Vujisic, Sanja, Nebojsa Vujnovic, Martina Bracun i Romana Dmitrovic. "WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?." Molecular and Experimental Biology in Medicine 2, br. 2 (2019): 57-62. https://hrcak.srce.hr/226239
Harvard
Vujisic, S., et al. (2019). 'WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?', Molecular and Experimental Biology in Medicine, 2(2), str. 57-62. Preuzeto s: https://hrcak.srce.hr/226239 (Datum pristupa: 24.10.2020.)
Vancouver
Vujisic S, Vujnovic N, Bracun M, Dmitrovic R. WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?. Molecular and Experimental Biology in Medicine [Internet]. 2019 [pristupljeno 24.10.2020.];2(2):57-62. Dostupno na: https://hrcak.srce.hr/226239
IEEE
S. Vujisic, N. Vujnovic, M. Bracun i R. Dmitrovic, "WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?", Molecular and Experimental Biology in Medicine, vol.2, br. 2, str. 57-62, 2019. [Online]. Dostupno na: https://hrcak.srce.hr/226239. [Citirano: 24.10.2020.]

Sažetak
Introduction: Primary ciliary dyskinesia (PCD; MIM 244400) is a heterogeneous autosomal recessive genetic disorder associated with infertility due to impaired sperm motility in men. We describe two such cases and give a literature review on the genetic background and reproductive outcome.
Materials and methods: Two primary infertile couples were referred to our clinic. Native semen, analyzed according to the WHO manual (2010), showed that male partners have completely immotile sperm with a negative pentoxifylline test. Sample vitality was compared according to different semen preparation methods (gradient density and washing method only). Genetic testing was done by Whole Exome next-generation Sequencing (WES) analysis. For the IVF/ICSI procedure, semen was prepared using the gradient density method, and prior to the ICSI procedure itself, a hypo-osmotic swelling test (HOST) was done.
Results: Semen analysis showed oligoasthenozoospermia in Patient 1 and oligoasthenoteratozoospermia in Patient 2. Blood draw for hormones and karyotype showed no irregularities in either case. Patient 1 was previously diagnosed with PCD, while Patient 2 was not. Parallel vitality testing did not show any differences between the two semen preparation methods in either of the two cases. Genetic testing in Patient 2 showed a pathogenic apparently homozygous CCDC40:c.2440C>T variant in exon 14 of the CCDC40 gene (MIM 613799). Fertilization rate after HOST/ICSI in both patients was 100%, and the final outcome for both patients was the birth of a healthy child.
Conclusion: Although PCD has diverse etiology, assisted reproduction techniques such as HOST give these couples a good chance for parenthood. Advances in testing and strict adherence to advised procedures are to be credited for such outcome improvement. Additionally, our recommendation for PCD patients and patients with immotile sperm is to do genetic testing and counselling prior to the IVF/ICSI procedure.

Ključne riječi
primary ciliary dyskinesia (PCD); male infertility; CCDC40; hypo-osmotic swelling test (HOST); ICSI

Hrčak ID: 226239

URI
https://hrcak.srce.hr/226239

Posjeta: 189 *